Abstract
Timely and holistic recommendations in disease diagnosis process may prove a great assistance to a medical practitioner. However, the amount of structured or unstructured data generated in medicinal domain are voluminous and thus imposes challenges. In order to make machines understand the data semantically and infer useful insights from patient’s information, the data needs to be semantically represented in an ontology. Therefore, in this paper we explore various ontologies existing in the medicinal domain. The paper proposes an Ontology-Based Framework for Healthcare (OHF) using these existing ontologies, and also proposes Healthcare Ontology (HO) which is a semantic representation of knowledgebase of patients’ healthcare information available in the form of Electronic Health Record (EHR). The OHF consisting of systematically generated and exhaustive ontologies may be utilized for predicting semantic inferences related to a patient’s medical condition. A case study is being used to explain working of the framework in disease diagnosis.
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References
Reddy, S., Fox, J., Purohit, M.P.: Artificial intelligence-enabled healthcare delivery. J. R. Soc. Med. 112, 22–28 (2019). https://doi.org/10.1177/0141076818815510
Hilbert, M., López, P.: The world’s technological capacity to store, communicate, and compute information. Science 80(332), 60–65 (2011). https://doi.org/10.1126/science.1200970
Car, J., Sheikh, A., Wicks, P., Williams, M.S.: Beyond the hype of big data and artificial intelligence: Building foundations for knowledge and wisdom. BMC Med. 17, 1–5 (2019). https://doi.org/10.1186/s12916-019-1382-x
Gruber, T.R.: A translation approach to portable ontology specifications. Knowl. Acquis. 5, 199–220 (1993). https://doi.org/10.1006/knac.1993.1008
Zeshan, F., Mohamad, R.: Medical ontology in the dynamic healthcare environment. Procedia Comput. Sci. 10, 340–348 (2012). https://doi.org/10.1016/j.procs.2012.06.045
Mallappallil, M., Sabu, J., Gruessner, A., Salifu, M.: A review of big data and medical research. SAGE Open Med. 8, 205031212093483 (2020). https://doi.org/10.1177/2050312120934839
Maedche, A.: Ontology — Definition & Overview. In: Ontology Learning for the Semantic Web. The Kluwer International Series in Engineering and Computer Science. 11–27. Springer, Boston (2002). https://doi.org/10.1007/978-1-4615-0925-7_2
Gruber, T.: Ontology (Computer Science) - definition in Encyclopedia of Database Systems (2009)
Bozsak, E., et al.: KAON — towards a large scale semantic web. In: Bauknecht, K., Tjoa, A.M., Quirchmayr, G. (eds.) EC-Web 2002. LNCS, vol. 2455, pp. 304–313. Springer, Heidelberg (2002). https://doi.org/10.1007/3-540-45705-4_32
Shen, Y., et al.: An ontology-driven clinical decision support system (IDDAP) for infectious disease diagnosis and antibiotic prescription. Artif. Intell. Med. 86, 20–32 (2018). https://doi.org/10.1016/j.artmed.2018.01.003
Dissanayake, P.I., Colicchio, T.K., Cimino, J.J.: Using clinical reasoning ontologies to make smarter clinical decision support systems: a systematic review and data synthesis. J. Am. Med. Informatics Assoc. 27, 159–174 (2020). https://doi.org/10.1093/jamia/ocz169
Zaman, S., Sarntivijai, S., Abernethy, D.R.: Use of biomedical ontologies for integration of biological knowledge for learning and prediction of adverse drug reactions. Gene Regul. Syst. Bio. 11 (2017). https://doi.org/10.1177/1177625017696075
Guralnick, L.: Manual of the international statistical classification of diseases, injuries, and causes of death. Am. J. Trop. Med. Hyg. 8, 1–393 (1959). https://doi.org/10.4269/ajtmh.1959.8.83
Cowie, J.M., et al.: A review of Clinical Terms Version 3 (Read Codes) for speech and language record kee**. Int. J. Lang. Commun. Disord. 36 (2001). https://doi.org/10.1080/13682820150217608
Forrey, A.W., et al.: Logical Observation Identifier Names and Codes (LOINC) database: a public use set of codes and names for electronic reporting of clinical laboratory test results. Clin. Chem. 42, 81–90 (1996). https://doi.org/10.1093/clinchem/42.1.81
McDonald, C.J., et al.: LOINC, a universal standard for identifying laboratory observations: A 5-year update. Clin. Chem. 49, 624–633 (2003). https://doi.org/10.1373/49.4.624
Carbon, S., et al.: The gene ontology resource: enriching a gold mine. Nucleic Acids Res. 49, 325–334 (2021). https://doi.org/10.1093/nar/gkaa1113
Stearns, M.Q., Price, C., Spackman, K.A., Wang, A.Y.: SNOMED clinical terms: overview of the development process and project status. In: Proceedings of the AMIA Symposium, pp. 662–666 (2001)
Gaudet-Blavignac, C., Foufi, V., Bjelogrlic, M., Lovis, C.: Use of the systematized nomenclature of medicine clinical terms (snomed ct) for processing free text in health care: Systematic sco** review (2021). https://doi.org/10.2196/24594
Bona, J.P., Brochhausen, M., Hogan, W.R.: Enhancing the drug ontology with semantically-rich representations of National Drug Codes and RxNorm unique concept identifiers. BMC Bioinform. 20, 1–14 (2019). https://doi.org/10.1186/s12859-019-3192-8
Schriml, L.M., et al.: Disease ontology: a backbone for disease semantic integration. Nucleic Acids Res. 40, 940–946 (2012). https://doi.org/10.1093/nar/gkr972
Schriml, L.M., et al.: Human Disease Ontology 2018 update: classification, content and workflow expansion. Nucleic Acids Res. 47, 955–962 (2019). https://doi.org/10.1093/nar/gky1032
Rosse, C., Me**o, J.L.V.: A reference ontology for biomedical informatics: the foundational model of anatomy. J. Biomed. Inform. 36, 478–500 (2003). https://doi.org/10.1016/j.jbi.2003.11.007
Kibbe, W.A., et al.: Disease Ontology 2015 update: an expanded and updated database of Human diseases for linking biomedical knowledge through disease data. Nucleic Acids Res. 43, 1071–1078 (2015). https://doi.org/10.1093/nar/gku1011
Langlotz, C.P.: RadLex: a new method for indexing online educational materials (2006). https://doi.org/10.1148/rg.266065168
Robinson, P.N., Köhler, S., Bauer, S., Seelow, D., Horn, D., Mundlos, S.: The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 83, 610–615 (2008). https://doi.org/10.1016/j.ajhg.2008.09.017
Hanna, J., Joseph, E., Brochhausen, M., Hogan, W.R.: Building a drug ontology based on RxNorm and other sources. J. Biomed. Semantics. 4, 1–9 (2013). https://doi.org/10.1186/2041-1480-4-44
Moss, J.E., Maniaci, M.J., Johnson, M.M.: 73-Year-old woman with progressive shortness of breath. Mayo Clin. Proc. 85, 95–98 (2010). https://doi.org/10.4065/mcp.2008.0584
Global Initiative For Chronic Obstructive Pulmonary Disease Inc.: POCKET GUIDE TO COPD DIAGNOSIS, MANAGEMENT, AND PREVENTION A Guide for Health Care Professionals (2020)
Segal-Gidan, F., Cherry, D., Jones, R., Williams, B., Hewett, L., Chodosh, J.: Update 2008: Alzheimer Guideline. Alzheimer. 7 (2011)
Gennari, J.H., et al.: The evolution of Protégé: an environment for knowledge-based systems development. Int. J. Hum. Comput. Stud. 58, 89–123 (2003). https://doi.org/10.1016/S1071-5819(02)00127-1
Horrocks, I., Patel-schneider, P.F., Boley, H., Tabet, S., Grosof, B., Dean, M.: SWRL: a semantic web rule language combining OWL and RuleML (2004)
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Dhiman, S., Thukral, A., Bedi, P. (2022). OHF: An Ontology Based Framework for Healthcare. In: Dev, A., Agrawal, S.S., Sharma, A. (eds) Artificial Intelligence and Speech Technology. AIST 2021. Communications in Computer and Information Science, vol 1546. Springer, Cham. https://doi.org/10.1007/978-3-030-95711-7_28
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